8774[HGNC] - ClinVar

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Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 58772	GRCh38/hg38 2q31.2-32.1(chr2:178880151-185352829)x1	CCDC141, CERKL +104 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148022	GRCh38/hg38 2q31.3-32.1(chr2:180942902-187372388)x1	CALCRL, CALCRL-AS1 +88 more	Copy number loss	See cases	GPathogenic
Select item 58811	GRCh38/hg38 2q31.3-32.1(chr2:181491072-182559009)x1	CERKL, ITGA4 +20 more	Copy number loss	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 2499647	GRCh38/hg38 2q31.3-32.1(chr2:181915576-182470985)	ITPRID2, LOC126806441 +5 more	Copy number loss	See cases	GUncertain significance
Select item 3210642	NM_001363871.4(PDE1A):c.1523C>T (p.Ser508Phe)	PDE1A (S508F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1238921	NM_001363871.4(PDE1A):c.1516+17841A>G	PDE1A	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1268286	NM_001363871.4(PDE1A):c.1516+17598del	PDE1A	Deletion (intron variant)	not provided	GBenign
Select item 1258905	NM_001363871.4(PDE1A):c.1516+17417T>C	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3210641	NM_001363871.4(PDE1A):c.1508C>A (p.Ala503Asp)	PDE1A (A415D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607382	NM_001363871.4(PDE1A):c.1453A>C (p.Lys485Gln)	PDE1A (K467Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210640	NM_001363871.4(PDE1A):c.1435G>A (p.Val479Met)	PDE1A (V499M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552006	NM_001363871.4(PDE1A):c.1354A>G (p.Ile452Val)	PDE1A (I364V +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354342	NM_001363871.4(PDE1A):c.1340T>C (p.Ile447Thr)	PDE1A (I429T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213579	NM_001363871.4(PDE1A):c.1333A>G (p.Thr445Ala)	PDE1A (T357A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1267048	NM_001363871.4(PDE1A):c.1329-157G>C	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2570465	NM_001363871.4(PDE1A):c.1313C>T (p.Ser438Phe)	PDE1A (S420F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487613	NM_001363871.4(PDE1A):c.1276C>T (p.Pro426Ser)	PDE1A (P338S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210638	NM_001363871.4(PDE1A):c.1224A>G (p.Ile408Met)	PDE1A (I390M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1239898	NM_001363871.4(PDE1A):c.1208-106T>C	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253451	NM_001363871.4(PDE1A):c.1208-134A>G	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289577	NM_001363871.4(PDE1A):c.1207+62A>T	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291679	NM_001363871.4(PDE1A):c.1207+48G>C	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 147268	GRCh38/hg38 2q32.1(chr2:182195003-182635313)x3	LOC129935219, PDE1A	Copy number gain	See cases	GBenign
Select item 1284004	NM_001363871.4(PDE1A):c.1004+33_1004+37dup	PDE1A	Duplication (intron variant)	not provided	GBenign
Select item 1265372	NM_001363871.4(PDE1A):c.1004+32_1004+37dup	PDE1A	Duplication (intron variant)	not provided	GBenign
Select item 1238438	NM_001363871.4(PDE1A):c.1004+35_1004+37dup	PDE1A	Duplication (intron variant)	not provided	GBenign
Select item 1233623	NM_001363871.4(PDE1A):c.1004+37dup	PDE1A	Duplication (intron variant)	not provided	GBenign
Select item 1231444	NM_001363871.4(PDE1A):c.1004+36_1004+37dup	PDE1A	Duplication (intron variant)	not provided	GBenign
Select item 1226653	NM_001363871.4(PDE1A):c.1004+24G>T	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2234382	NM_001363871.4(PDE1A):c.982A>G (p.Asn328Asp)	PDE1A (N240D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1178442	NM_001363871.4(PDE1A):c.902+87C>T	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283548	NM_001363871.4(PDE1A):c.902+48T>A	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3305347	NM_001363871.4(PDE1A):c.869A>T (p.Asn290Ile)	PDE1A (N202I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1237696	NM_001363871.4(PDE1A):c.777-119C>T	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236025	NM_001363871.4(PDE1A):c.776+7C>T	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2535211	NM_001363871.4(PDE1A):c.739C>T (p.His247Tyr)	PDE1A (H159Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305345	NM_001363871.4(PDE1A):c.682C>G (p.Leu228Val)	PDE1A (L210V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210647	NM_001363871.4(PDE1A):c.682C>T (p.Leu228Phe)	PDE1A (L210F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1287772	NM_001363871.4(PDE1A):c.675+224_675+225insAG	PDE1A	Insertion (intron variant)	not provided	GBenign
Select item 1224772	NM_001363871.4(PDE1A):c.675+225del	PDE1A	Deletion (intron variant)	not provided	GBenign
Select item 1233910	NM_001363871.4(PDE1A):c.675+60T>G	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2283445	NM_001363871.4(PDE1A):c.571T>G (p.Leu191Val)	PDE1A (L173V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1269975	NM_001363871.4(PDE1A):c.534+233T>C	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3033294	NM_001363871.4(PDE1A):c.527G>A (p.Arg176His)	PDE1A (R158H +4 more)	Single nucleotide variant (missense variant)	PDE1A-related disorder	GLikely benign
Select item 2479221	NM_001363871.4(PDE1A):c.526C>T (p.Arg176Cys)	PDE1A (R158C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305346	NM_001363871.4(PDE1A):c.486T>A (p.Phe162Leu)	PDE1A (F144L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210646	NM_001363871.4(PDE1A):c.406G>A (p.Val136Ile)	PDE1A (V136I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681473	NM_001363871.4(PDE1A):c.405C>T (p.Ile135=)	PDE1A	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3210645	NM_001363871.4(PDE1A):c.287C>G (p.Pro96Arg)	PDE1A (P116R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590166	NM_001363871.4(PDE1A):c.260G>A (p.Arg87Gln)	PDE1A (R107Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210644	NM_001363871.4(PDE1A):c.211G>T (p.Asp71Tyr)	PDE1A (D71Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1238917	NM_001363871.4(PDE1A):c.168-1408G>C	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3042224	NM_001363871.4(PDE1A):c.168-1621T>G	PDE1A (M1R)	Single nucleotide variant (missense variant +2 more)	PDE1A-related disorder	GLikely benign
Select item 1229626	NM_001363871.4(PDE1A):c.168-1739A>C	PDE1A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1252654	NM_001363871.4(PDE1A):c.168-1806A>G	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243990	NM_001363871.4(PDE1A):c.168-1978C>A	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265090	NM_001363871.4(PDE1A):c.167+202A>G	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3210643	NM_001363871.4(PDE1A):c.136G>A (p.Val46Met)	PDE1A (V46M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241358	NM_001363871.4(PDE1A):c.100G>A (p.Val34Ile)	PDE1A (V34I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621854	NM_001363871.4(PDE1A):c.56T>C (p.Leu19Pro)	PDE1A (L19P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1243837	NM_001363871.4(PDE1A):c.54-8dup	PDE1A	Duplication (intron variant)	not provided	GBenign
Select item 1238581	NM_001363871.4(PDE1A):c.54-101T>C	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2920834	NM_001363871.4(PDE1A):c.53+38808_53+38811del	PDE1A	Microsatellite (intron variant)	not provided	GBenign
Select item 1238159	NM_005019.7(PDE1A):c.101+113C>T	PDE1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2484937	NM_005019.7(PDE1A):c.67C>G (p.Gln23Glu)	PDE1A (Q23E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1259379	NC_000002.12:g.182522885T>C	PDE1A	Single nucleotide variant	not provided	GBenign
Select item 1809147	GRCh37/hg19 2q32.1(chr2:183206179-184174590)x3	DNAJC10, DUSP19 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1809107	GRCh37/hg19 2q32.1(chr2:183070475-186717885)x3	DNAJC10, DUSP19 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1808028	GRCh37/hg19 2q32.1(chr2:183176314-183295923)x1	PDE1A	Copy number loss	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979389	GRCh37/hg19 2q31.2-32.1(chr2:180266166-183403506)x3	UBE2E3, CERKL +8 more	Copy number gain	not provided	GUncertain significance
Select item 814353	GRCh37/hg19 2q32.1(chr2:183301715-183433628)x1	PDE1A	Copy number loss	not provided	GUncertain significance
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 685829	GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1	AGPS, ATF2 +56 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic
Select item 221427	GRCh37/hg19 2q31.3-32.1(chr2:182756899-183051256)x4	ITPRID2, PDE1A +1 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 93